AHA Issues Fetal Heart Disease Guidance

Action Points

The American Heart Association has released a scientific statement that highlights what is currently known and recommended on the basis of evidence and experience in the rapidly advancing and highly specialized field of fetal cardiac care.

The statement notes that fetal cardiac medicine has evolved considerably over the past 2 decades, predominantly in response to advances in imaging technology and innovations in therapies. The diagnosis of cardiac disease in the fetus is mostly made with ultrasound but newer techniques are available. Additionally, strategies for delivery room care now enable stabilization of high-risk fetuses and contribute to improved outcomes.

Recognizing the fetus as a patient, the American Heart Association (AHA) has released a scientific statement that addresses the diagnosis and treatment of fetal cardiac disease.

The field of fetal cardiac medicine has expanded greatly in recent decades along with advances in imaging, according to a writing group chaired by Mary Donofrio, MD, of Children's National Medical Center in Washington.

"Given the expanded roles of the pediatric cardiologist specializing in fetal medicine and the maternal fetal specialist as collaborative caregivers for fetuses with structural heart disease, arrhythmias, or cardiovascular dysfunction, a new standard of care for the practice of the multidisciplinary, rapidly advancing, and highly specialized field of fetal cardiac medicine is needed," they wrote.

To create the statement, Donofrio and colleagues reviewed literature covering the diagnosis of congenital heart disease and arrhythmias, the assessment of cardiac function and the rest of the cardiovascular system, and the range of treatments available.

For diagnosis, the statement covers the timing of referral for evaluation, indications for referrals, and the level of experience needed to perform and interpret various diagnostic studies. That includes a detailed discussion of the fetal echocardiogram -- the main tool for evaluating fetal cardiac disease -- and reviews of other tests, including advanced ultrasound, fetal magnetic resonance imaging, and fetal magnetocardiography and electrocardiography.

Although the most common trigger for a referral is an obstetric ultrasound that raises the suspicion of a fetal structural heart abnormality, numerous other factors increase the chances of congenital heart disease in the fetus, such as:

Maternal pregestational diabetes and diabetes diagnosed in the first trimester

Maternal uncontrolled phenylketonuria

Exposure to nonsteroidal anti-inflammatory drugs in the third trimester

The presence of congenital heart disease in the mother or a close relative

The use of assisted reproductive technology to conceive

Once the diagnosis is made, it is important to manage parental stress and anxiety and discuss treatment options, according to the statement. Although there is no proven best way to do that, the authors provide guidance on counseling parents.

"The aims of prenatal counseling are four-fold: providing an accurate diagnosis of the malformation, providing a clear and truthful picture of the prognosis, outlining management and treatment options that are available, and helping parents reach decisions concerning the form of management that is best for them," Donofrio and colleagues wrote.

They pointed out that "current fetal therapeutic strategies range from maternal administration of medication with transplacental transfer to the fetus [for arrhythmia management] to ultrasound or minimally invasive fetoscopic-guided techniques to invasive open uterine fetal surgery."

Few randomized controlled trials have been conducted to evaluate these therapies, however.

The authors also discussed the benefits of being able to diagnose fetal cardiac disease and initiate management before delivery, which allows counseling of the parents and prediction of the clinical course of disease in preparation for delivery.

"This allows specialized planning of deliveries in select cases with the goal of improved fetal and postnatal outcomes," they wrote. "Fetal medicine specialists are now being asked to consider the fetus as a patient and the transition to postnatal life an important part of individualized care."

The statement was endorsed by the Pediatric & Congenital Electrophysiology Society and the American Society of Echocardiography.

Donofrio disclosed no relevant relationships with industry. The other members of the writing group disclosed relevant relationships with the American Institute of Ultrasound in Medicine, the International Society for Ultrasound in Obstetrics & Gynecology, the Society for Maternal-Fetal Medicine, Philips Medical, GE Healthcare, Siemens Medical, AGA Medical, and the NIH.

Reviewed by Zalman S. Agus, MD Emeritus Professor, Perelman School of Medicine at the University of Pennsylvania

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